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Hackett, Anna

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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 120 93 0
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 42 31 0
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 214 196 0
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 251 179 0
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 481 409 0
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes 332 291 0
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability 0 0 0
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